Canonical Allele Identifier: CA2245715778

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071404005

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224864del , CM000679.2:g.7224864del	GRCh38
NC_000017.10:g.7128183del , CM000679.1:g.7128183del	GRCh37
NC_000017.9:g.7068907del	NCBI36
NG_007975.1:g.10031del
NG_008391.2:g.187del
NG_033038.1:g.14681del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1807del MANE Select	ENSP00000349297.5:p.Cys603ValfsTer?
ENST00000322910.9:c.*1762del	ENSP00000325395.5:n.*1762del
ENST00000350303.9:c.1741del	ENSP00000344152.5:p.Cys581ValfsTer?
ENST00000356839.9:c.1807del	ENSP00000349297.5:p.Cys603ValfsTer?
ENST00000542255.6:c.686del
ENST00000543245.6:c.1876del	ENSP00000438689.2:p.Cys626ValfsTer?
ENST00000578033.1:n.232del
ENST00000578319.5:n.388del
ENST00000578711.1:n.1360del
ENST00000578809.5:n.379del
ENST00000579425.5:n.923del
ENST00000579546.1:c.542del
ENST00000583848.5:c.173del	ENSP00000466487.1:n.173del
ENST00000583850.5:n.578del
ENST00000583858.5:c.738del
NM_000018.3:c.1807del	NP_000009.1:p.Cys603ValfsTer?
NM_001033859.2:c.1741del	NP_001029031.1:p.Cys581ValfsTer?
NM_001270447.1:c.1876del	NP_001257376.1:p.Cys626ValfsTer?
NM_001270448.1:c.1579del	NP_001257377.1:p.Cys527ValfsTer?
XM_006721516.2:c.1828del	XP_006721579.2:p.Cys610ValfsTer?
XM_011523829.1:c.1726del	XP_011522131.1:p.Cys576ValfsTer?
XM_011523830.1:c.1705del	XP_011522132.1:p.Cys569ValfsTer?
XR_934021.1:n.1910del
XR_934022.1:n.1816del
XR_934023.1:n.1837del
XM_006721516.3:c.1828del	XP_006721579.2:p.Cys610ValfsTer?
XM_011523829.2:c.1726del	XP_011522131.1:p.Cys576ValfsTer?
XM_011523830.2:c.1705del	XP_011522132.1:p.Cys569ValfsTer?
XM_024450741.1:c.1795del	XP_024306509.1:p.Cys599ValfsTer?
XR_934021.2:n.1862del
XR_934022.2:n.1768del
XR_934023.2:n.1789del
NM_000018.4:c.1807del MANE Select	NP_000009.1:p.Cys603ValfsTer?
NM_001033859.3:c.1741del	NP_001029031.1:p.Cys581ValfsTer?
NM_001270447.2:c.1876del	NP_001257376.1:p.Cys626ValfsTer?
NM_001270448.2:c.1579del	NP_001257377.1:p.Cys527ValfsTer?